Treating neurodegenerative diseases

This account is written in response to the article by L.J. Findley
and M.G. Baker on treating neurodegenerative diseases - BMJ 2002:324:1466-
7. It relates to the discrepancy in perception between doctors and
patients which may arise when considering which treatments are of benefit
to those with chronic disabling conditions.

My wife had Motor Neurone Disease (MND). This was diagnosed when she
was 57, and she died 9 years later after successive, progressive paralysis
of her feet, legs, back, diaphragm, arms, and hands. She would have died
some 2 years earlier but was provided at that time with non-invasive
mechanical ventilation which eventually was in operation continually.
This intervention is likely to have contributed to her continued ability
to speak, eat, and drink normally throughout her illness. However, the
use of non-invasive ventilation also meant that she lived through more
extensive and deeper paralysis than would otherwise have been the case.
The use of mechanical ventilation is becoming more frequent in treating
neurological patients who may therefore develop greater levels and
durations of disability before death occurs. My wife’s problems
illustrate the need to anticipate and put remedies in place early when
dealing with the practical aspects of trying to maintain quality of life
with MND.

My wife lost unassisted mobility 4 years after diagnosis. She was
able to maintain local independence through manual and powered wheelchairs
and travel between locations by being driven in adapted vehicles. It was
clear that this independence would not continue unless the practical
problems associated with urination and defecation could be overcome. Her
own suggestion for urination was that a supra-pubic catheter should be
fitted. The GP recommended the formation of a colostomy to complete the
package. Both suggestions were met with horror by the medical specialists
on the grounds that MND does not cause bladder or bowel impairment and
that a bad situation might be made much worse. After consideration of all
the views put forward and recognising that there is always a case for
doing nothing when elective surgery is being considered my wife decided to
proceed. The supra-pubic catheter was inserted first followed about 1
year later by the formation of the colostomy. The colostomy was formed by
keyhole surgery during a 3 day stay in hospital after which she had
recovered entirely from the operation.

After fitting the supra-pubic catheter its benefits were soon
apparent as she no longer needed such frequent visits to the lavatory.
The device was notably free from irritation and obstruction. It became
crystal clear to my wife that the catheter and colostomy were essential
elements in maintaining a reasonable lifestyle for as long as possible
enabling her to go out for a whole day shopping, to visit places of
interest, to take part in art classes and exhibitions, and generally to
get around without obvious worries. Also, once comfortable in her
wheelchair she could remain undisturbed and did not have to waste precious
time with repeated and protracted transfers between wheelchair and
lavatory with someone having to support her and clean her up. It was not
necessary to face the unpleasant discovery that a public lavatory was not
equipped for disabled users. She was also able to sleep undisturbed at
night. This aspect was most welcome because, as with the wheelchair, once
comfortable it was important not to change her position. It could take 30
minutes to smooth out to a sufficient extent the bedding under her skin or
even her skin itself which had become loose due to loss of muscle and fat.
When the disease had reduced the power and control in her arms and hands
to the point where she needed assistance with changing the catheter and
colostomy bags she still had long uninterrupted periods to spend at her
computer or with loved ones. At this stage in her illness she found these
features truly rewarding. She and those around her felt that the two
interventions described were amongst the most useful provided and helped
her maintain independence and happiness for far longer than would
otherwise have been possible. In fact their usefulness continued up to
the moment of her death which occurred tranquilly in the comfort of her
home with close relatives standing by her side.

A lengthy illness was predicted in my wife’s case so she felt that
the two procedures described would be effective solutions to vexing
problems and were worth implementing even though they did not attract the
instant approval of the medical specialists. This diversity of opinion
was without doubt due to looking at the same problem from two very
different points of view. The specialists wanted to play safe whilst my
wife faced with the definite prospect of years of increasing paralysis was
prepared to take a chance. She felt that the risks were acceptably small
in comparison with the potential benefits. She hated the prospect of
repeated hoisting to get on and off the lavatory due to the discomfort and
pain hoisting caused her. Nor did she relish the thought of repeated
enemas and changes of urethral catheters. She was not overburdened with
modesty by any of this but could see that it would lead rapidly to her
being cocooned indoors which she felt would have had a bad psychological
effect. In the event the outcome from a psychological point of view as
well as the practical was really pleasing. My wife felt that she had done
something beneficial which blocked the misery which would have developed
if the natural progression of the disease had not been challenged.

People are usually capable of balancing risk against their personal
desires. In the case of a disease like MND it seems reasonable to give an
individual the opportunity to evaluate as many medical appliances and
interventions as may be appropriate to their circumstances and in the
event of a positive request to follow it up with speedy implementation so
that they can focus on those aspects of life most important to them.
However, in the case of procedures which can significantly prolong life
but not prevent the progression of distressing symptoms, as is the case
with mechanical ventilation applied to MND, it is essential for the
patient to be advised comprehensively about the immediate and future
implications of the intervention, including the difficulties which may
arise later in the course of the disease if, for example, the patient
wishes to be weaned off ventilation.

It is reasonably certain that the use of non-invasive ventilation
helped to prolong my wife’s life by years rather than months. This
extension to life was made much more acceptable and useful to her through
the fitting of a supra-pubic catheter and formation of a colostomy. It
enabled her to continue taking an active role in things of personal
interest rather than being reduced to a passive observer. She felt that
they were the two most useful medical procedures she had during the
disease because their effectiveness was felt immediately and was sustained
throughout. These procedures do not seem to be part of the standard
approach by the medical profession in responding to MND and possibly to
other chronic neurological disabling conditions as well. However, if my
wife’s experience is taken as a measure, they are certainly the kind of
thing that the patient may want.

Thanks are due to the medical and nursing staff who cared for my wife
and to Hilary Donovan RGN, Diploma Terminal and Palliative Care, for her
kindness in reading this account and the suggestions she made.

Competing interests:
None declared